Results 1 to 10 of about 157,645 (329)

Whole-exome sequencing of a pedigree segregating asthma [PDF]

BMC Medical Genetics, 2012
Background Despite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered.
DeWan Andrew T, Egan Kathryn Brigham, Hellenbrand Karen, Sorrentino Keli, Pizzoferrato Nicole, Walsh Kyle M, Bracken Michael B   +6 more
doaj   +8 more sources

Whole exome sequencing in the rat [PDF]

BMC Genomics, 2018
Background The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation.
Julie F. Foley, Dhiral P. Phadke, Owen Hardy, Sara Hardy, Victor Miller, Anup Madan, Kellie Howard, Kimberly Kruse, Cara Lord, Sreenivasa Ramaiahgari, Gregory G. Solomon, Ruchir R. Shah, Arun R. Pandiri, Ronald A. Herbert, Robert C. Sills, B. Alex Merrick   +15 more
doaj   +4 more sources

Whole-exome sequencing study of hypospadias

iScience, 2023
Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the ...
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen   +7 more
doaj   +4 more sources

Whole Exome Sequencing in Atrial Fibrillation.

PLoS Genetics, 2016
Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution
Steven A Lubitz, Jennifer A Brody, Nathan A Bihlmeyer, Carolina Roselli, Lu-Chen Weng, Ingrid E Christophersen, Alvaro Alonso, Eric Boerwinkle, Richard A Gibbs, Joshua C Bis, NHLBI GO Exome Sequencing Project, L Adrienne Cupples, Peter J Mohler, Deborah A Nickerson, Donna Muzny, Marco V Perez, Bruce M Psaty, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Emelia J Benjamin, Susan R Heckbert, Dan E Arking, Patrick T Ellinor, Honghuang Lin   +24 more
doaj   +5 more sources

The Application of Whole−Exome Sequencing in Patients With FUO [PDF]

Frontiers in Cellular and Infection Microbiology, 2022
BackgroundFever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis.
Wanru Guo, Xuewen Feng, Ming Hu, Yanwan Shangguan, Jiafeng Xia, Wenjuan Hu, Xiaomeng Li, Zunjing Zhang, Yunzhen Shi, Kaijin Xu   +9 more
doaj   +3 more sources

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. [PDF]

, 2011
Background: Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all ...
Brice, G, Child, AH, Connell, FC, Hwang, J, Jeffery, S, Kalidas, K, Mansour, S, Mortimer, PS, Onoufriadis, A, Ostergaard, P, Simpson, MA, Trembath, R   +11 more
core   +5 more sources

Whole exome sequencing enhances diagnosis of hereditary bronchiectasis [PDF]

Orphanet Journal of Rare Diseases
Background Hereditary bronchiectasis refers to a subset of bronchiectasis related to genetic mutations, presenting with common clinical features. Historically, diagnosing this condition has been difficult due to the inaccessibility of diagnostic services
Wangji Zhou, Yixuan Li, Haixia Zheng, Miao He, Miaoyan Zhang, Qiaoling Chen, Christopher Situ, Yaqi Wang, Ting Zhang, Keqi Chen, Jinrong Dai, Shuzhen Meng, Xueqi Liu, Aohua Wu, Yaping Liu, Kai-Feng Xu, Xinlun Tian, Xue Zhang   +17 more
doaj   +2 more sources

Whole-Exome Sequencing in Familial Parkinson Disease [PDF]

JAMA Neurology, 2016
IMPORTANCE: Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.
Boerwinkle, Eric, Bowling, Kevin, Coban-Akdemir, Zeynep H., Doheny, Kimberly, Farlow, Janice L., Foroud, Tatiana, Gambin, Tomasz, Gibbs, Richard A., Gu, Shen, Hetrick, Kurt, Jain, Preti, Jankovic, Joseph, Jhangiani, Shalini, Kaw, Kaveeta, Lai, Dongbing, Lin, Hai, Ling, Hua, Liu, Yunlong, Lupski, James R., Muzny, Donna, Myers, Richard M., Porter, Paula, Pugh, Elizabeth, Robak, Laurie A., Shulman, Joshua M., White, Janson   +25 more
core   +5 more sources

Apert's syndrome: Study by whole exome sequencing

Genes and Diseases, 2018
In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of ...
Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar   +6 more
doaj   +5 more sources

NCI-60 whole exome sequencing and pharmacological CellMiner analyses. [PDF]

PLoS ONE, 2014
Exome sequencing provides unprecedented insights into cancer biology and pharmacological response. Here we assess these two parameters for the NCI-60, which is among the richest genomic and pharmacological publicly available cancer cell line databases ...
William C Reinhold, Sudhir Varma, Fabricio Sousa, Margot Sunshine, Ogan D Abaan, Sean R Davis, Spencer W Reinhold, Kurt W Kohn, Joel Morris, Paul S Meltzer, James H Doroshow, Yves Pommier   +11 more
doaj   +3 more sources